Chromosoma最新文献_第5页

The launch of satellite: DNA repeats as a cytogenetic tool in discovering the chromosomal universe of wild Triticeae. 卫星的发射:DNA重复序列作为细胞遗传学工具在发现野生小麦的染色体宇宙。

IF 1.6 4区生物学

Chromosoma Pub Date : 2023-06-01 DOI: 10.1007/s00412-023-00789-4

Pavel Yu Kroupin, Daniil S Ulyanov, Gennady I Karlov, Mikhail G Divashuk

{"title":"The launch of satellite: DNA repeats as a cytogenetic tool in discovering the chromosomal universe of wild Triticeae.","authors":"Pavel Yu Kroupin, Daniil S Ulyanov, Gennady I Karlov, Mikhail G Divashuk","doi":"10.1007/s00412-023-00789-4","DOIUrl":"https://doi.org/10.1007/s00412-023-00789-4","url":null,"abstract":"Fluorescence in situ hybridization is a powerful tool that enables plant researchers to perform systematic, evolutionary, and population studies of wheat wild relatives as well as to characterize alien introgression into the wheat genome. This retrospective review reflects on progress made in the development of methods for creating new chromosomal markers since the launch of this cytogenetic satellite instrument to the present day. DNA probes based on satellite repeats have been widely used for chromosome analysis, especially for \"classical\" wheat probes (pSc119.2 and Afa family) and \"universal\" repeats (45S rDNA, 5S rDNA, and microsatellites). The rapid development of new-generation sequencing and bioinformatical tools, and the application of oligo- and multioligonucleotides has resulted in an explosion in the discovery of new genome- and chromosome-specific chromosome markers. Owing to modern technologies, new chromosomal markers are appearing at an unprecedented velocity. The present review describes the specifics of localization when employing commonly used vs. newly developed probes for chromosomes in J, E, V, St, Y, and P genomes and their diploid and polyploid carriers Agropyron, Dasypyrum, Thinopyrum, Pseudoroegneria, Elymus, Roegneria, and Kengyilia. Particular attention is paid to the specificity of probes, which determines their applicability for the detection of alien introgression to enhance the genetic diversity of wheat through wide hybridization. The information from the reviewed articles is summarized into the TRepeT database, which may be useful for studying the cytogenetics of Triticeae. The review describes the trends in the development of technology used in establishing chromosomal markers that can be used for prediction and foresight in the field of molecular biology and in methods of cytogenetic analysis.","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":"132 2","pages":"65-88"},"PeriodicalIF":1.6,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9689645","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Replisome-cohesin interactions provided by the Tof1-Csm3 and Mrc1 cohesion establishment factors. Tof1-Csm3和Mrc1内聚建立因子提供的复制体-内聚素相互作用。

IF 2.5 4区生物学

Chromosoma Pub Date : 2023-06-01 Epub Date: 2023-05-11 DOI: 10.1007/s00412-023-00797-4

Sudikchya Shrestha, Masashi Minamino, Zhuo A Chen, Céline Bouchoux, Juri Rappsilber, Frank Uhlmann

{"title":"Replisome-cohesin interactions provided by the Tof1-Csm3 and Mrc1 cohesion establishment factors.","authors":"Sudikchya Shrestha, Masashi Minamino, Zhuo A Chen, Céline Bouchoux, Juri Rappsilber, Frank Uhlmann","doi":"10.1007/s00412-023-00797-4","DOIUrl":"10.1007/s00412-023-00797-4","url":null,"abstract":"The chromosomal cohesin complex establishes sister chromatid cohesion during S phase, which forms the basis for faithful segregation of DNA replication products during cell divisions. Cohesion establishment is defective in the absence of either of three non-essential Saccharomyces cerevisiae replication fork components Tof1-Csm3 and Mrc1. Here, we investigate how these conserved factors contribute to cohesion establishment. Tof1-Csm3 and Mrc1 serve known roles during DNA replication, including replication checkpoint signaling, securing replication fork speed, as well as recruiting topoisomerase I and the histone chaperone FACT. By modulating each of these functions independently, we rule out that one of these known replication roles explains the contribution of Tof1-Csm3 and Mrc1 to cohesion establishment. Instead, using purified components, we reveal direct and multipronged protein interactions of Tof1-Csm3 and Mrc1 with the cohesin complex. Our findings open the possibility that a series of physical interactions between replication fork components and cohesin facilitate successful establishment of sister chromatid cohesion during DNA replication.","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":"132 2","pages":"117-135"},"PeriodicalIF":2.5,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10247859/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9744612","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Chromosome stability @10! 染色体稳定性@10!

IF 1.6 4区生物学

Chromosoma Pub Date : 2023-06-01 DOI: 10.1007/s00412-023-00795-6

K T Nishant, Kaustuv Sanyal

引用次数: 0

A cytological revisit on parthenogenetic Artemia and the deficiency of a meiosis-specific recombinase DMC1 in the possible transition from bisexuality to parthenogenesis. 单性生殖青蒿的细胞学回顾和减数分裂特异性重组酶DMC1在双性恋到单性生殖的可能转变中的缺乏。

IF 1.6 4区生物学

Chromosoma Pub Date : 2023-06-01 DOI: 10.1007/s00412-023-00790-x

Lian-Ying Xu, Wen-Tao Wu, Ning Bi, Zhi-Jun Yan, Fan Yang, Wei-Jun Yang, Jin-Shu Yang

{"title":"A cytological revisit on parthenogenetic Artemia and the deficiency of a meiosis-specific recombinase DMC1 in the possible transition from bisexuality to parthenogenesis.","authors":"Lian-Ying Xu, Wen-Tao Wu, Ning Bi, Zhi-Jun Yan, Fan Yang, Wei-Jun Yang, Jin-Shu Yang","doi":"10.1007/s00412-023-00790-x","DOIUrl":"https://doi.org/10.1007/s00412-023-00790-x","url":null,"abstract":"Although parthenogenesis is widespread in nature and known to have close relationships with bisexuality, the transitional mechanism is poorly understood. Artemia is an ideal model to address this issue because bisexuality and \"contagious\" obligate parthenogenesis independently exist in its congeneric members. In the present study, we first performed chromosome spreading and immunofluorescence to compare meiotic processes of Artemia adopting two distinct reproductive ways. The results showed that, unlike conventional meiosis in bisexual Artemia, meiosis II in parthenogenic Artemia is entirely absent and anaphase I is followed by a single mitosis-like equational division. Interspecific comparative transcriptomics showed that two central molecules in homologous recombination (HR), Dmc1 and Rad51, exhibited significantly higher expression in bisexual versus parthenogenetic Artemia. qRT-PCR indicated that the expression of both genes peaked at the early oogenesis and gradually decreased afterward. Knocking-down by RNAi of Dmc1 in unfertilized females of bisexual Artemia resulted in a severe deficiency of homologous chromosome pairing and produced univalents at the middle oogenesis stage, which was similar to that of parthenogenic Artemia, while in contrast, silencing Rad51 led to no significant chromosome morphological change. Our results indicated that Dmc1 is vital for HR in bisexual Artemia, and the deficiency of Dmc1 may be correlated with or even possibly one of core factors in the transition from bisexuality to parthenogenesis.","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":"132 2","pages":"89-103"},"PeriodicalIF":1.6,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10046892","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A genome-wide RNAi screen for genes important for proliferation of cultured Drosophila cells at low temperature identifies the Ball/VRK protein kinase. 对低温培养果蝇细胞增殖重要基因的全基因组RNAi筛选鉴定出Ball/VRK蛋白激酶。

IF 1.6 4区生物学

Chromosoma Pub Date : 2023-03-01 DOI: 10.1007/s00412-023-00787-6

Anna Mendaluk, Emmanuel Caussinus, Michael Boutros, Christian F Lehner

{"title":"A genome-wide RNAi screen for genes important for proliferation of cultured Drosophila cells at low temperature identifies the Ball/VRK protein kinase.","authors":"Anna Mendaluk, Emmanuel Caussinus, Michael Boutros, Christian F Lehner","doi":"10.1007/s00412-023-00787-6","DOIUrl":"https://doi.org/10.1007/s00412-023-00787-6","url":null,"abstract":"A change in ambient temperature is predicted to disrupt cellular homeostasis by affecting all cellular processes in an albeit non-uniform manner. Diffusion is generally less temperature-sensitive than enzymes, for example, and each enzyme has a characteristic individual temperature profile. The actual effects of temperature variation on cells are still poorly understood at the molecular level. Towards an improved understanding, we have performed a genome-wide RNA interference screen with S2R + cells. This Drosophila cell line proliferates over a temperature range comparable to that tolerated by the parental ectothermic organism. Based on effects on cell counts and cell cycle profile after knockdown at 27 and 17 °C, respectively, genes were identified with an apparent greater physiological significance at one or the other temperature. While 27 °C is close to the temperature optimum, the substantially lower 17 °C was chosen to identify genes important at low temperatures, which have received less attention compared to the heat shock response. Among a substantial number of screen hits, we validated a set successfully in cell culture and selected ballchen for further evaluation in the organism. This gene encodes the conserved metazoan VRK protein kinase that is crucial for the release of chromosomes from the nuclear envelope during mitosis. Our analyses in early embryos and larval wing imaginal discs confirmed a higher requirement for ballchen function at temperatures below the optimum. Overall, our experiments validate the genome-wide screen as a basis for future characterizations of genes with increased physiological significance at the lower end of the readily tolerated temperature range.","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":"132 1","pages":"31-53"},"PeriodicalIF":1.6,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9981717/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9352289","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A large-scale RNAi screen reveals that mitochondrial function is important for meiotic chromosome organization in oocytes. 大规模的RNAi筛选显示，线粒体功能对卵母细胞减数分裂染色体的组织是重要的。

IF 1.6 4区生物学

Chromosoma Pub Date : 2023-03-01 DOI: 10.1007/s00412-023-00784-9

Karen Jule Nieken, Kathryn O'Brien, Alexander McDonnell, Liudmila Zhaunova, Hiroyuki Ohkura

{"title":"A large-scale RNAi screen reveals that mitochondrial function is important for meiotic chromosome organization in oocytes.","authors":"Karen Jule Nieken, Kathryn O'Brien, Alexander McDonnell, Liudmila Zhaunova, Hiroyuki Ohkura","doi":"10.1007/s00412-023-00784-9","DOIUrl":"https://doi.org/10.1007/s00412-023-00784-9","url":null,"abstract":"In prophase of the first meiotic division, chromatin forms a compact spherical cluster called the karyosome within the enlarged oocyte nucleus in Drosophila melanogaster. Similar clustering of chromatin has been widely observed in oocytes in many species including humans. It was previously shown that the proper karyosome formation is required for faithful chromosome segregation, but knowledge about its formation and maintenance is limited. To identify genes involved in karyosome formation, we carried out a large-scale cytological screen using Drosophila melanogaster oocytes. This screen comprised 3916 genes expressed in ovaries, of which 106 genes triggered reproducible karyosome defects upon knockdown. The karyosome defects in 24 out of these 106 genes resulted from activation of the meiotic recombination checkpoint, suggesting possible roles in DNA repair or piRNA processing. The other genes identified in this screen include genes with functions linked to chromatin, nuclear envelope, and actin. We also found that silencing of genes with mitochondrial functions, including electron transport chain components, induced a distinct karyosome defect typically with de-clustered chromosomes located close to the nuclear envelope. Furthermore, mitochondrial dysfunction not only impairs karyosome formation and maintenance, but also delays synaptonemal complex disassembly in cells not destined to become the oocyte. These karyosome defects do not appear to be mediated by apoptosis. This large-scale unbiased study uncovered a set of genes required for karyosome formation and revealed a new link between mitochondrial dysfunction and chromatin organization in oocytes.","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":"132 1","pages":"1-18"},"PeriodicalIF":1.6,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9981535/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10145961","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Super-resolution microscopy reveals the number and distribution of topoisomerase IIα and CENH3 molecules within barley metaphase chromosomes. 超分辨显微镜显示了大麦中期染色体中拓扑异构酶i α和CENH3分子的数量和分布。

IF 1.6 4区生物学

Chromosoma Pub Date : 2023-03-01 DOI: 10.1007/s00412-023-00785-8

Ivona Kubalová, Klaus Weisshart, Andreas Houben, Veit Schubert

{"title":"Super-resolution microscopy reveals the number and distribution of topoisomerase IIα and CENH3 molecules within barley metaphase chromosomes.","authors":"Ivona Kubalová, Klaus Weisshart, Andreas Houben, Veit Schubert","doi":"10.1007/s00412-023-00785-8","DOIUrl":"https://doi.org/10.1007/s00412-023-00785-8","url":null,"abstract":"Topoisomerase IIα (Topo IIα) and the centromere-specific histone H3 variant CENH3 are key proteins involved in chromatin condensation and centromere determination, respectively. Consequently, they are required for proper chromosome segregation during cell divisions. We combined two super-resolution techniques, structured illumination microscopy (SIM) to co-localize Topo IIα and CENH3, and photoactivated localization microscopy (PALM) to determine their molecule numbers in barley metaphase chromosomes. We detected a dispersed Topo IIα distribution along chromosome arms but an accumulation at centromeres, telomeres, and nucleolus-organizing regions. With a precision of 10-50 nm, we counted ~ 20,000-40,000 Topo IIα molecules per chromosome, 28% of them within the (peri)centromere. With similar precision, we identified ~13,500 CENH3 molecules per centromere where Topo IIα proteins and CENH3-containing chromatin intermingle. In short, we demonstrate PALM as a useful method to count and localize single molecules with high precision within chromosomes. The ultrastructural distribution and the detected amount of Topo IIα and CENH3 are instrumental for a better understanding of their functions during chromatin condensation and centromere determination.","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":"132 1","pages":"19-29"},"PeriodicalIF":1.6,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9981516/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9360421","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Sex-chrom v. 2.0: a database of green plant species with sex chromosomes. sex -chrom v. 2.0:具有性染色体的绿色植物物种数据库。

IF 1.6 4区生物学

Chromosoma Pub Date : 2023-03-01 DOI: 10.1007/s00412-023-00786-7

Sònia Garcia, Bohuslav Janousek, Joan Pere Pascual-Díaz, Susanne S Renner

引用次数: 0

Genome characterization and CRISPR-Cas9 editing of a human neocentromere. 人类新着丝粒的基因组表征和CRISPR-Cas9编辑。

IF 1.6 4区生物学

Chromosoma Pub Date : 2022-12-01 Epub Date: 2022-08-17 DOI: 10.1007/s00412-022-00779-y

Antonio Palazzo, Ilaria Piccolo, Crescenzio Francesco Minervini, Stefania Purgato, Oronzo Capozzi, Pietro D'Addabbo, Cosimo Cumbo, Francesco Albano, Mariano Rocchi, Claudia Rita Catacchio

{"title":"Genome characterization and CRISPR-Cas9 editing of a human neocentromere.","authors":"Antonio Palazzo, Ilaria Piccolo, Crescenzio Francesco Minervini, Stefania Purgato, Oronzo Capozzi, Pietro D'Addabbo, Cosimo Cumbo, Francesco Albano, Mariano Rocchi, Claudia Rita Catacchio","doi":"10.1007/s00412-022-00779-y","DOIUrl":"https://doi.org/10.1007/s00412-022-00779-y","url":null,"abstract":"The maintenance of genome integrity is ensured by proper chromosome inheritance during mitotic and meiotic cell divisions. The chromosomal counterpart responsible for chromosome segregation to daughter cells is the centromere, at which the spindle apparatus attaches through the kinetochore. Although all mammalian centromeres are primarily composed of megabase-long repetitive sequences, satellite-free human neocentromeres have been described. Neocentromeres and evolutionary new centromeres have revolutionized traditional knowledge about centromeres. Over the past 20 years, insights have been gained into their organization, but in spite of these advancements, the mechanisms underlying their formation and evolution are still unclear. Today, through modern and increasingly accessible genome editing and long-read sequencing techniques, research in this area is undergoing a sudden acceleration. In this article, we describe the primary sequence of a previously described human chromosome 3 neocentromere and observe its possible evolution and repair results after a chromosome breakage induced through CRISPR-Cas9 technologies. Our data represent an exciting advancement in the field of centromere/neocentromere evolution and chromosome stability.","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":" ","pages":"239-251"},"PeriodicalIF":1.6,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9674717/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40704624","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Cytogenetic status of patients with congenital malformations or suspected chromosomal abnormalities in Turkey: a comprehensive cytogenetic survey of 11,420 patients. 土耳其先天性畸形或疑似染色体异常患者的细胞遗传学状况:11,420例患者的全面细胞遗传学调查

IF 1.6 4区生物学

Chromosoma Pub Date : 2022-12-01 Epub Date: 2022-10-11 DOI: 10.1007/s00412-022-00782-3

Osman Demirhan, Erdal Tunç

{"title":"Cytogenetic status of patients with congenital malformations or suspected chromosomal abnormalities in Turkey: a comprehensive cytogenetic survey of 11,420 patients.","authors":"Osman Demirhan, Erdal Tunç","doi":"10.1007/s00412-022-00782-3","DOIUrl":"https://doi.org/10.1007/s00412-022-00782-3","url":null,"abstract":"Cytogenetic analysis is helpful in diagnostic workup of patients having prenatal or early postnatal medical problems and provides a basis for genetic counseling or deciding on clinical treatment options. Chromosomal abnormalities (CAs) constitute one of the most important category of genetic defects which have the potential to cause irreversible disorders. In this study, chromosome analysis results of 11,420 patients having congenital malformations or suspected of having chromosomal abnormalities, who were referred to Çukurova University Research and Training Hospital Cytogenetic Laboratory over a 16-year period, were investigated, retrospectively. Of all patients analyzed, CAs were found in 1768 cases, accounting for 15.5% of all cases. It was observed that 1175 (15.5%) of CAs were numerical (10.3%) and 593 (5.2%) were structural chromosome abnormalities. Among numerical CAs, Down syndrome (DS), Turner syndrome (TS) and Klinefelter syndrome (KS) constituted common categories which were observed in 7, 1.1 and 0.9% of all cases, respectively. Among the structural CAs, translocations, inversions, fragilities, deletions,, and others were the most common categories and constituted 2.2, 0.9, 0.9, 0.7, 0.3, and 0.3% of all cases, respectively. The sex ratio (male/female) of all cases was 1.01 and of DS cases was 1.6. Our results further confirmed that cytogenetic analysis is necessary in terms of making definite diagnosis of genetic disorders, providing proper genetic counseling and clinical treatment, assessing the recurrence risk, and preventing the hereditary genetic diseases and disorders. Besides, such studies will greatly assist in constituting national and international databases or records of genetic disorders.","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":"131 4","pages":"225-237"},"PeriodicalIF":1.6,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33500097","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0